ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573072883
Gene: FAH
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001361309.1:p.Ala134Asp
NM_001374380.1:c.401C>A